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Over the past few years, gene mutations affecting a series of muscle proteins have been shown to cause nemaline myopathy, a disease that is characterized by muscle weakness, respiratory problems and the presence of "nemaline rods" (abnormal rod-shaped structures) in skeletal muscle biopsies. Current studies are aimed at identification of new nemaline myopathy genes, understanding the basis for the variability observed in these patients, and determining how these mutations affect muscle function and lead to weakness.
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